@article{54a049e382264bda933e56e51a383a04,
title = "Beethoven, a mouse model for dominant, progressive hearing loss DFNA36",
abstract = "Despite recent progress in identifying genes underlying deafness, there are still relatively few mouse models of specific forms of human deafness. Here we describe the phenotype of the Beethoven (Bth) mouse mutant and a missense mutation in Tmc1 (transmembrane cochlear-expressed gene 1). Progressive hearing loss (DFNA36) and profound congenital deafness (DFNB7/B11) are caused by dominant and recessive mutations of the human ortholog, TMC1 (ref. 1), for which Bth and deafness (dn)1 are mouse models, respectively.",
author = "Sarah Vreugde and Alexandra Erven and Kros, {Corn{\'e} J.} and Walter Marcotti and Helmut Fuchs and Kiyoto Kurima and Wilcox, {Edward R.} and Friedman, {Thomas B.} and Griffith, {Andrew J.} and Rudi Bailing and {Hrab{\'e} de Angelis}, Martin and Avraham, {Karen B.} and Steel, {Karen P.}",
note = "Funding Information: We thank J. Parkin for his help with the genotyping and A. Adato at the Crown Human Genome Center, the Weizmann Institute of Science, for bioinformatics assistance. This study was supported by grants from the European Commission (to K.P.S., K.B.A., R.B. and M.H.), the Israel Ministry of Health (to K.B.A.), the German Human Genome Project (to R.B. and M.H.), the UK Medical Research Council (to K.P.S. and C.J.K.), Defeating Deafness (to K.P.S.), the Constantiner Institute for Molecular Genetics at Tel Aviv University (to S.V.) and from the National Institutes of Health–National Institute on Deafness and Other Communication Disorders intramural funds (to T.B.F., E.R.W. and A.J.G.). This work was carried out in partial fulfillment of the requirements for a Ph.D. degree of S.V., Sackler Faculty of Medicine, Tel Aviv University, Israel.",
year = "2002",
month = mar,
doi = "10.1038/ng848",
language = "אנגלית",
volume = "30",
pages = "257--258",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "3",
}